Associated Papers
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1
Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review.
Ambrose A et al.
Human Mutation, 2025
40548259 (PubMed )
Supplement: 6490124.f1.zip › SupplementalTable4.xlsx › Sheet1
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E et al.
Neuropediatrics, 2023
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Palumbo P et al.
Genes, 2020
Alazami syndrome: the first case of papillary thyroid carcinoma.
Ivanovski I et al.
Journal of Human Genetics, 2020
Select a paper to view details